The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted...

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Bibliografiska uppgifter
I publikationen:J Inherit Metab Dis
Huvudupphovsmän: Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J.L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D.M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J.M., Salomons, Gajja S., Van Hove, Johan L.K.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6345606/
https://ncbi.nlm.nih.gov/pubmed/30043187
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12045
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